Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

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Article

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Molecular vision - 25 Aug 2008

Lesch Balázs, Szabó Viktória, Kánya Melinda, Varsányi Balázs, Somfai Gábor M, Hargitai János, Vámos Rita, Fiedler Orsolya, Farkas Agnes

Abstract excerpt

PURPOSE: To present the ocular findings of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein. Our genetic results were compared to a mouse model of XLRS. METHODS: Complete ophthalmic examinations were performed on five members (two male patients, two female carriers, and one healthy fraternal...

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PMID: 18728755
PMCID: PMC2519029

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